Reversible multiorgan system involvement in a neonate with complex IV deficiency.
Mitochondrial respiratory chain deficiencies can present as fulminant liver failure or disease, and the prognosis when associated with severe neonatal lactic acidosis is frequently guarded. We report the case of a neonate who presented with acute liver failure and fulminant lactic acidosis with profound complex IV deficiency documented in muscle and liver biopsies. The neonate subsequently experienced clinical resolution by 3 months of age, and was observed to have reversibility of the biochemical deficiency noted in muscle. This case illustrates that resolution of this severe neonatal phenotype does occur, of importance for accurate prognostic and genetic counseling for such affected neonates.
Low
Evonne
E
National Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland.
Crushell
Ellen B
EB
Harty
Sinead B
SB
Ryan
Stephanie P
SP
Treacy
Eileen P
EP
D000140:Acidosis, Lactic / Q000209:etiology*; D001927:Brain Diseases / Q000209:etiology* / Q000473:pathology; D030401:Cytochrome-c Oxidase Deficiency / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017114:Liver Failure, Acute / Q000209:etiology*; D008279:Magnetic Resonance Imaging; D018482:Muscle, Skeletal / Q000473:pathology; D011379:Prognosis